Minimal lower eyelid epicanthoplasty combined with thermal contraction to treat epiblepharon in chinese children.

BACKGROUND: To evaluate the clinical efficacy of combined minimal lower eyelid epicanthoplasty and thermal contraction for epiblepharon repair in Chinese children. METHODS: Between January 2017 and August 2020, a single surgeon corrected epiblepharon in Chinese children using minimal lower eyelid epicanthoplasty combined with thermal contraction. First, a minimal epicanthoplasty flap to balance the lower eyelid was made cross the lower eyelid epicanthus, which connected with a 20-mm-long incision 1.5 mm below the lower eyelid margin. After removing the hypertrophic orbicularis oculi muscle running between the lower epicanthal fold and the medial canthal tendon, thermal cauterization was applied to increase lower eyelid rotation by creating adhesions between the lower eyelid retractor and tarsus. The residual medial edge was sutured to the corner of the epicanthus to decrease the lower eyelid epicanthus. The postoperative follow-up ranged from 3 to 24 months. We retrospectively analyzed cases to determine whether this approach decreased the lower eyelid epicanthal fold to equalize the tension of the lower eyelid. The surgical outcomes including the direction of lower eyelid eyelashes, complications, and refractive errors were evaluated. RESULTS: Data from each eye of 53 Chinese children (29 female, 24 males; mean age: 5.3 ± 2.3 years) who had undergone minimal lower eyelid epicanthoplasty combined with thermal contraction were included. During follow-up, recurrence was observed in just one of the 106 eyes (0.94%), and two eyes (1.89%) showed under-correction. No visible scars formed in the postoperative period. All patients' parents were satisfied with the cosmetic results and had no serious complaints. The mean astigmatism was significantly reduced by the surgery from 1.82 ± 0.45 diopters (D) preoperatively to 1.43 ± 0.36 D postoperatively (P < 0.05). CONCLUSION: This surgery is easy to design, time-efficient, and is effective in the correction of epiblepharon. The procedure allows surgeons to achieve good appearance and natural eyelid contour without apparent complications.

TPTEP1 suppresses high glucose-induced dysfunction in retinal vascular endothelial cells by interacting with STAT3 and targeting VEGFA.

AIMS: Diabetic retinopathy (DR) is a vascular complication of diabetes mellitus that causes visual impairment and blindness. Long noncoding RNAs (lncRNAs) have been revealed to be involved in biological processes of several diseases including DR. We designed this study to investigate the specific role of TPTEP1 in DR. METHODS: First, we mimicked diabetic conditions with high glucose (HG) stimulation of human retinal vascular endothelial cells (HRVECs) and measured TPTEP1 expression in HG-stimulated HRVECs using RT-qPCR analysis. Then, CCK-8, Transwell, and Matrigel tube formation assays as well as western blot analysis were performed to reveal the biological functions of TPTEP1 in HG-stimulated HRVECs. Subsequently, bioinformatics analysis, RNA pull down, luciferase reporter and ChIP assays as well as western blot analysis evaluated the relationship of TPTEP1, signal transducer and activator of transcription 3 (STAT3) and vascular endothelial growth factor A (VEGFA) in HG-stimulated HRVECs. Finally, to verify the regulation of the TPTEP1/STAT3/VEGFA axis in HG-stimulated HRVECs, rescue experiments were carried out in HG-stimulated HRVECs. RESULTS: TPTEP1 presented a significant downregulation in HG-stimulated HRVECs. Additionally, TPTEP1 overexpression reduced viability, migration, and angiogenesis in HG-stimulated HRVECs. Moreover, TPTEP1 suppressed phosphorylation and nuclear translocation of STAT3, and thereby downregulated VEGFA mRNA and protein levels. Furthermore, TPTEP1 overexpression-mediated suppression of HG-induced dysfunction in HRVECs was countervailed by STAT3 upregulation or VEGFA upregulation. CONCLUSIONS: TPTEP1 alleviated HG-induced dysfunction in HRVECs via interacting with STAT3 and targeting VEGFA.

Injury of photoreceptors and retinal pigment epithelium in macular area of a preterm infant: A case analysis.

RATIONAL: Injury of photoreceptors and retinal pigment epithelium (RPE) in macular area of premature infants is very rare. PATIENT CONCERNS: A preterm infant delivered under general anesthesia. The infant was born at 28 weeks' and 4 days' gestation, with a birth weight of 1.15 kg and a treatment of oxygen inhalation after birth. According to the related protocol formulated by the Ophthalmology Branch of the Chinese Medical Association in 2014, the infant was regularly checked in our hospital. DIAGNOSIS: Optical coherence tomography (OCT) examination showed injuries of the photoreceptors and RPE in macular area. INTERVENTIONS: The fundus screening at 40 weeks' and 4 days' gestation (corrected gestational age) showed retinopathy of prematurity in bilateral eyes, with round yellow-white lesions at the macular area of right eye and sub-temporal macular area. OCT examination showed interrupted signals in the external limiting membrane (ELM), inner segment of the photoreceptors (IS)/outer segment of the photoreceptors (OS) layer, interdigitation zone (IZ), and RPE of the central fovea of macula of the right eye, with the area of defect of approximately 184 µm. Enhanced signal reflection was found under the defect area. Interrupted signals were also found in the IS/OS layer of the central fovea of macula of the left eye, with the area of defect of approximately 222 µm. Fundus fluorescence angiography (FFA) examination showed transmitted fluorescence at the macular area of the right eye and sub-temporal macular area of the left eye, suggesting retinopathy of prematurity in bilateral eyes. OUTCOMES: Several factors, such as photic damage, eye injuries, hyperpyrexia, and underlying diseases, could cause macular retinal injuries. However, the baby had not received any radiation from high energy intense light sources, and had no history of hyperpyrexia or trauma. Fundamental screening was performed 1 year and 4 months of age and no obvious change was found in the round yellow-white lesions of the eyes compared with that in earlier stages. We have contacted with the patient for the follow-up OCT and FFA examinations a month later to check the possible structural changes of the macular area. LESSONS: The retina of a preterm infant is underdeveloped, we speculated that the bilateral retinal injuries in this baby could be caused by various factors.

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

BACKGROUND: Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, which showed significant homology to other species such as bovine and mouse. To date, 74 pathogenic or likely pathogenic mutations had been reported. CASE PRESENTATION: Here we describe a compound heterozygote in LYST gene, which was identified in a 4-year-old female patient. The patient showed skin hypopigmentation, sensitivity to light, mild splenomegaly and reduction of platelets in clinical examination. Giant intracytoplasmic inclusions were observed in the bone marrow examination, suggesting the diagnosis of CHS. Amplicon sequencing was performed to detect pathogenic mutation in LYST gene. The result was confirmed by two-generation pedigree analysis base on sanger sequencing. CONCLUSION: A compound heterozygote in LYST gene, consisting of a missense mutation c.5719A > G and an intron mutation c.4863-4G > A, was identified from the patient by using amplicon sequencing. The missense mutation is reported for the first time. Two-generation pedigree analysis showed these two mutations were inherited from the patient's parents, respectively. Our result demonstrated that amplicon sequencing has great potential for accelerating and improving the diagnosis of rare genetic diseases.